Prevalence and mortality among children with anorectal malformation: A multi-country analysis

• Type of Material: Article
• Authors: Vijaya Kancherla, Emory University; Manasvi Sundar, Emory University; Lucita Tandaki, Otto von Guericke University; Anke Lux, Otto von Guericke University; Marian K Bakker, University of Groningen; Jorieke E Bergman, University of Groningen; Eva Bermejo-Sánchez, Instituto de Salud Carlos III; Mark A Canfield, Texas Department of State Health Services; Saeed Dastgiri, Tabriz University of Medical Science; Marcia L Feldkamp, University of Utah; Miriam Gatt, Directorate for Health Information and Research, Guardamangia; Boris Groisman, National Ministry of Health, Buenos Aires; Paula Hurtado-Villa, Pontificia Universidad Javeriana Cali; Kärin Kallen, National Board of Health and Welfare; Danielle Landau, Soroka Medical Center; Nathalie Lelong, Center for Epidemiology and Statistics Sorbonne Paris Cité (CRESS), Paris; Jorge Lopez-Camelo, Center for Medical Education and Clinical Research (CEMIC-CONICET), Buenos Aires, Argentina; Laura Elia Martinez, Universidad Autónoma de Nuevo León; Pierpaolo Mastroiacovo, International Clearinghouse for Birth Defects Surveillance and Research; Margery Morgan, Singleton Hospital; Osvaldo M Mutchinick, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán; Amy E Nance, Utah Department of Health; Wendy N Nembhard, University of Arkansas Medical Sciences; Anna Pierini, National Research Council and Fondazione Toscana Gabriele Monasterio; Antonin Sipek, Thomayer Hospital; Erin B Stallings, US Centers for Disease Control, Atlanta; Elena Szabova, Slovak Medical University; Giovanna Tagliabue, Fondazione IRCCS Istituto Nazionale dei Tumori; Wladimir Wertelecki, OMNI-Net Ukraine Programs; Ignacio Zarante, Pontificia Universidad Javeriana; Anke Rissmann, Otto von Guericke University
• Language: English
• Date: 2022-11-19
• Publisher: WILEY
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2022 The Authors. Birth Defects Research published by Wiley Periodicals LLC.
• License: Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1002/bdr2.2129
• Title of Journal or Parent Work: BIRTH DEFECTS RESEARCH
• Volume: 115
• Issue: 3
• Start Page: 390
• End Page: 404
• Keywords: anorectal atresia; Developmental Biology; CARE; birth defect; CONGENITAL-ANOMALIES; Science & Technology; ANUS; DIAGNOSIS; prevalence; epidemiology; DESCRIPTIVE EPIDEMIOLOGY; Life Sciences & Biomedicine; mortality; RISK; Toxicology; BIRTH

Abstract

Purpose: We examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM). Methods: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status. Results: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974–2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively. Conclusions: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.